Publications by authors named "Clare J Love"

3Publications

Early diagnosis of Pearson syndrome in neonatal intensive care following rapid mitochondrial genome sequencing in tandem with exome sequencing.

Authors:
Lauren S Akesson Stefanie Eggers Clare J Love Belinda Chong Emma I Krzesinski Natasha J Brown Tiong Y Tan Christopher M Richmond David R Thorburn John Christodoulou Matthew F Hunter Sebastian Lunke Zornitza Stark

Eur J Hum Genet 2019 12 29;27(12):1821-1826. Epub 2019 Jul 29.

Victorian Clinical Genetics Services, Murdoch Children's Research Institute, Melbourne, VIC, Australia.

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December 2019

High-Throughput Amplicon-Based Copy Number Detection of 11 Genes in Formalin-Fixed Paraffin-Embedded Ovarian Tumour Samples by MLPA-Seq.

Authors:
Olga Kondrashova Clare J Love Sebastian Lunke Arthur L Hsu Paul M Waring Graham R Taylor

PLoS One 2015 16;10(11):e0143006. Epub 2015 Nov 16.

Department of Pathology, University of Melbourne, Melbourne, VIC, Australia.

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June 2016

AmpliVar: mutation detection in high-throughput sequence from amplicon-based libraries.

Authors:
Arthur L Hsu Olga Kondrashova Sebastian Lunke Clare J Love Cliff Meldrum Renate Marquis-Nicholson Greg Corboy Kym Pham Matthew Wakefield Paul M Waring Graham R Taylor

Hum Mutat 2015 Apr 16;36(4):411-8. Epub 2015 Mar 16.

Department of Pathology, The University of Melbourne, Parkville, Victoria, Australia.

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April 2015